A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242615



Internal ID22047225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68772571..68772571hg38UCSC Ensembl
chr18:66439808..66439808hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849422
Samples
Known GenesCCDC102B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242615
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer